Slc35a1 solute carrier family 35 (CMP-sialic acid transporter), member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc35a1provided by MGI
Official Full Name: solute carrier family 35 (CMP-sialic acid transporter), member 1provided by MGI
Primary source: MGI:MGI:1345622
See related: Ensembl:ENSMUSG00000028293 AllianceGenome:MGI:1345622
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CST; CMP-SA-Tr; CMP-Sia-Tr
Summary: Enables CMP-N-acetylneuraminate transmembrane transporter activity and antiporter activity. Involved in CMP-N-acetylneuraminate biosynthetic process and CMP-N-acetylneuraminate transmembrane transport. Located in Golgi membrane. Is expressed in several structures, including genitourinary system; liver; lung; retina; and spleen. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation type IIf. Orthologous to human SLC35A1 (solute carrier family 35 member A1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in colon adult (RPKM 7.9), bladder adult (RPKM 4.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 A5; 4 16.86 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (34663257..34688113, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (34663257..34688113, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Endothelial Slc35a1 Deficiency Causes Loss of LSEC Identity and Exacerbates Neonatal Lipid Deposition in the Liver in Mice.
Title: Endothelial Slc35a1 Deficiency Causes Loss of LSEC Identity and Exacerbates Neonatal Lipid Deposition in the Liver in Mice.
Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase and Solute Carrier Family 35 Member A1 Are Required for Reovirus Binding and Infection.
Title: Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase and Solute Carrier Family 35 Member A1 Are Required for Reovirus Binding and Infection.
Detailed visualization of extensive protein-substrate interactions explains the mechanisms governing substrate selectivity. Further structural analysis of mCST's unique lumen-facing partially-occluded conformation, coupled with the characterization of substrate-induced quenching of mCST's intrinsic tryptophan fluorescence, reveals the concerted conformational transitions that occur during substrate transport.
Title: Structural basis for mammalian nucleotide sugar transport.
analysis of the functional murine CMP-sialic acid transporter expressed in the E. coli inner membrane
Title: Targeting the expression of functional murine CMP-sialic acid transporter to the E. coli inner membrane.
CMP-sialic acid transporter is localized in the medial-trans Golgi
Title: The CMP-sialic acid transporter is localized in the medial-trans Golgi and possesses two specific endoplasmic reticulum export motifs in its carboxyl-terminal cytoplasmic tail.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)

General gene information

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Markers

Slc35a1 (e-PCR), detects polymorphism
- UniSTS:547083

AU024269 (e-PCR)
- UniSTS:178977

AI314851 (e-PCR)
- UniSTS:178978

RH118272 (e-PCR)
- UniSTS:122989

RH124674 (e-PCR)
- UniSTS:161496

RH125772 (e-PCR)
- UniSTS:162520

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables CMP-N-acetylneuraminate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables CMP-N-acetylneuraminate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in CMP-N-acetylneuraminate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in CMP-N-acetylneuraminate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in CMP-N-acetylneuraminate transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in CMP-N-acetylneuraminate transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: CMP-sialic acid transporter

Names: solute carrier family 35 member A1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001424928.1 → NP_001411857.1 CMP-sialic acid transporter isoform 1

Status: VALIDATED

Source sequence(s)

AL928738
NM_001424930.1 → NP_001411859.1 CMP-sialic acid transporter isoform 2

Status: VALIDATED

Source sequence(s)

AL928738
NM_001424931.1 → NP_001411860.1 CMP-sialic acid transporter isoform 4

Status: VALIDATED

Source sequence(s)

AL928738
NM_001424932.1 → NP_001411861.1 CMP-sialic acid transporter isoform 5

Status: VALIDATED

Source sequence(s)

AL928738
NM_001424933.1 → NP_001411862.1 CMP-sialic acid transporter isoform 6

Status: VALIDATED

Source sequence(s)

AL928738
NM_011895.4 → NP_036025.2 CMP-sialic acid transporter isoform 3

See identical proteins and their annotated locations for NP_036025.2

Status: VALIDATED

Source sequence(s)

AL928738

Consensus CDS

CCDS18030.1

UniProtKB/Swiss-Prot

A2AT44, Q61420

Related

ENSMUSP00000029970.8, ENSMUST00000029970.14

Conserved Domains (1) summary

pfam04142
Location:8 → 314

Nuc_sug_transp; Nucleotide-sugar transporter

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

34663257..34688113 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006537892.4 → XP_006537955.1 CMP-sialic acid transporter isoform X2

Conserved Domains (1) summary

pfam04142
Location:8 → 335

Nuc_sug_transp; Nucleotide-sugar transporter